Tatton-Brown-Rahman syndrome

Summary

DOID:0112339 - Tatton-Brown-Rahman syndrome

Disease Ontology Definition:A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3.

Synonyms: DNMT3A overgrowth syndrome, DOS, Tatton-Brown-Rahman overgrowth syndrome, TBRS

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dnmt3a

MIM:

MIM:615879 - TATTON-BROWN-RAHMAN SYNDROME; TBRS

MIM:615879 - TATTON-BROWN-RAHMAN SYNDROME; TBRS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), syndromic intellectual disability (is_a)